Results 1 to 10 of about 1,654,437 (300)
Genetic issues in the diagnosis of dystonias [PDF]
Frontiers in Neurology, 2013 Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting and repetitive movements and abnormal postures.
Petrucci S., Valente E. M.
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BMC Medical Genomics, 2023 Background With the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome aneuploidy, but also related to chromosomal microdeletion and microduplication.
Xiaorui Xie +6 more
doaj +1 more source
Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports
Molecular Cytogenetics, 2021 Background Trisomy 16 (T16) is thought to be the most frequent chromosome abnormality at conception, which is often associated with a high risk of abnormal outcomes.
Haishan Peng +5 more
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Genetic analysis of 55 cases with fetal skeletal dysplasia
Orphanet Journal of Rare Diseases, 2022 Background Fetal skeletal dysplasia (SD) is a common congenital disability comprising a complex group of skeletal disorders with substantial clinical and genetic heterogeneity. Many of these defects are detected prenatally using ultrasound (US). However,
Ying Bai +10 more
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Genetic testing in Marfan syndrome [PDF]
, 2016 Genetic testing is aiding rapid diagnosis of Marfan syndrome as a basis for management of eye, heart and skeletal disease. The affected patient's mutation can be used as a basis for prenatal or postnatal diagnosis of offspring.
Aragon-Martin, JA, Child, AH, Sage, K
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Single-nucleotide polymorphism-based genetic risk score and patient age at prostate cancer diagnosis [PDF]
, 2019 Importance: Few studies have evaluated the association between a single-nucleotide polymorphism-based genetic risk score (GRS) and patient age at prostate cancer (PCa) diagnosis.
Andriole, Gerald L +10 more
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Laser microdissection as a new approach to prefertilization genetic diagnosis [PDF]
, 2000 The genetic status of oocytes can be determined by polar body (PB) analysis. Following PB extraction, a genetic evaluation is performed. As each PB contains the complementary genetic material of the oocyte, PB analysis reveals information about its ...
Buchholz, Tina +2 more
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Genetic Surveillance of Five SARS-CoV-2 Clinical Samples in Henan Province Using Nanopore Sequencing
Frontiers in Immunology, 2022 Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has rapidly spread and poses a major threat to public health worldwide. The whole genome sequencing plays a crucial role in virus surveillance and evolutionary analysis.
Yanan Wang +7 more
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A case report of cornelia de lange syndrome in Northern Iran; a clinical and diagnostic study [PDF]
, 2016 As a rare multisystem congenital anomaly disorder, Cornelia de Lange syndrome (CdLS) is featured by delayed growth and development, distinct facial dimorphism, limb malformations and multiple organ defects.
Alaee, E. +2 more
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Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes
Frontiers in Genetics, 2023 Uniparental disomy (UPD) refers to as both homologous chromosomes inherited from only one parent without identical copies from the other parent. Studies on clinical phenotypes in UPDs are usually focused on the documented UPD 6, 7, 11, 14, 15, and 20 ...
Qi Chen +7 more
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